RareLSD_Id | 1059 |
ENZYME | Ribonuclease T2 |
GENE | RNASET2 |
E.C.NUMBER | 3.1.27.- |
FAMILY | Rnase T2 |
CYTOGENETICS | 6q27 |
DISEASE | Cystic leukoencephalopathy without megalencephaly |
SNP | rs1011904673,rs1044059,rs1047901021,rs11557915 |
DEPOSIT | RSET2 glycoprotein |
REF | 28658095, 3424803 |
TEMP (in Celsius) | 22 |
pI | 10 |
pH | 4.66 |
Catalytic Nucleophile | 2'OH |
Catalytic Acid/Base
| Glu58 (BASE) |
Substrate | R + H2O |
Product | NA |
Structure(PDB/Phyre2_ID) | 3T0O |
kM | NA |
DRUG | NA |
SEQ LENGTH | 256 |
AA SEQ | MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWPFNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSINYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRVCEDGPVFYPPPKKTKH |
MODIFICATION | N-linked Glycosylation:Asn76,Asn106,Asn212,Ubiquitination:Lys157 |
INHIBITOR | Cu2+,Zn2+,poliovirus R |
ACTIVE SITE RESIDUE | His65,Glu114,His118 |
DISULPHIDE BRIDGES | *48-55,*75-121,*184-241,*202-213 |
PSEUDOGENES | PGOHUM00000250933 |
MISCELLANEOUS | NA |
PARALOGS | ENSG00000249141 |
MECHANISM | catalyzeds phophodiester cleavage |
INHERITANCE PATTERN | Autosomal recessive |
ORGAN AFFECTED | Nervous System,Head,Ear,Eye |
ENZYME LOCATION | NA |
UniProt ID | O00584 |